Variant: rs1367714753 

    present in Gene: SOS1
    present in Chromosome: 2
    Position on Chromosome: 39006522
    Alleles of this Variant: G/C

rs1367714753 in SOS1 gene and Noonan Syndrome 4 PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

PMID 19438935 2009 SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

PMID 20673819 2011 Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

PMID 19953625 2010 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.